Defects of intrinsic and innate immunity
Gene: CASP4EnsemblGeneIds (GRCh38): ENSG00000196954
EnsemblGeneIds (GRCh37): ENSG00000196954
OMIM: 602664, Gene2Phenotype
CASP4 is in 2 panels
1 review
Peter McNaughton (Queensland Children's Hospital)
Single patient with severe disease secondary to B. pseudomallei requiring ECMO. Adjunctive IFN-γ administration as replacement for its failed induction by IL-18 promptly led to clearance of B. pseudomallei and subsequent weaning of support.
Novel homozygous missense mutation in CASP4, at exon 7 c.1030C > T. Peripheral blood mononuclear cells (PBMC) of the patient and her parents showed reduced IFN-γ production, notably to IL-12 stimulation, and decreased IL-18 in response to LPS and increased IL-1B. Cloned cells show impacts on CASP4 activation and pyroptosis.
Sources: LiteratureCreated: 26 Sep 2023, 6:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Susceptibility to meliodiosis
Publications
- PMID: 37647624
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Hereditary susceptibility to infection, MONDO:0015979, CASP4-related
- Susceptibility to meliodiosis
- OMIM
- 602664
- Clinvar variants
- Variants in CASP4
- Penetrance
- None
- Publications
-
- PMID: 37647624
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: casp4 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CASP4 were changed from Susceptibility to meliodiosis to Hereditary susceptibility to infection, MONDO:0015979, CASP4-related; Susceptibility to meliodiosis
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: casp4 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: CASP4 was added gene: CASP4 was added to Defects of innate immunity. Sources: Literature Mode of inheritance for gene: CASP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP4 were set to PMID: 37647624 Phenotypes for gene: CASP4 were set to Susceptibility to meliodiosis Review for gene: CASP4 was set to RED